When a person has three copies of chromosome number 21, instead of normal two copies, he or she develops a health condition called Down syndrome. This genetical abnormality greatly affects the physical and intellectual development of the individual. The chromosomes are the carriers of genetic material that determine every minute physical and mental characteristics of a person.
The most significant effect of Down syndrome is mental retardation, combined along with a characteristic facial appearance. There are many physical abnormalities such as malformations of the heart, a portion of the small intestine not fully developed and a significant risk of acute leukemia.
A Down syndrome affected person is significantly characterized by slight flattening of the face, a fold of skin over the top of the inner corner of the eye, a low bridge of the nose and presence of tiny, harmless white spots around the iris, small and disfigured fingers, a significantly round face and many more.
There are prenatal screening tests to find whether an unborn child is affected by Down syndrome and if so, there are certain tests called diagnostic tests that confirm the presence of Down syndrome. The reasons for the occurrence of Down syndrome are not yet established but scientists say that women of age 35 and above have a significantly higher risk of having a child with this abnormality.
Though it is not confirmed as hereditary, it is basically a genetical malfunction that occurs during the formation of reproductive cells. The presence of Down syndrome may not be evident until childhood and the child may take a significantly longer time to turn over, sit, stand or respond due to poor muscle tone. In addition, the speech and language abilities may also take a longer time but the most glaring aspect is the intellectual handicap. The intelligence quotient or IQ of the child will certainly be below the normal range.
The other common effects of Down syndrome include thyroid problems, eye problems, bone, muscle, nerve or joint problems, congenital heart diseases, obesity, seizure disorders, developmental delay and more importantly, mental retardation. Half of the children have problems with hearing and vision with increased risk of cataract.
It is crucial to detect in the earlier stage with the help of special educators, speech therapists and occupational therapists. Such children do have a wide range of abilities and talents which they can develop at their own pace and still achieve their goal. There are special educators who are specifically trained to deal with and teach such children. So, it is sane not to compare Down syndrome affected children with other normal children.
Since Down syndrome is a problem by birth, it cannot be cured but the symptoms and disorders can be controlled to some extent. Half a century ago, the life expectancy was nine years but now it has increased to fifty years. So, it is very crucial to have regular check ups to ensure whether there are any changes in health and treat them, if necessary.
